Congenital adrenal hyperplasia: Diagnosis, evaluation, and management

Zoltan Antal, Ping Zhou

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

• CAH represents a family of disorders of the cortisol synthesis pathway in which more than 90% of cases are caused by 21OHD. The hallmark of 21OHD is excessive androgen production that varies in degree among its different subtypes. • The severe classic form of CAH is the most common cause of ambiguous genitalia in a genetically female fetus. • Experimental treatment of mothers with dexamethasone in early gestation results in significantly less virilization in female fetuses affected with classic CAH. • Newborn screening has had an important impact on identifying the salt-wasting subtype in male infants and preventing adrenal crisis. • Lifelong treatment with steroids is required for most patients. • The consequences of the disease and complications of the treatment remain a challenge and require the involvement of multiple subspecialties. • As in many other diseases, gene therapy offers real hope for a cure for CAH.

Original languageEnglish (US)
Pages (from-to)e49-e57
JournalPediatrics in review
Volume30
Issue number7
DOIs
StatePublished - Jul 1 2009

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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